Living with Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
A milder inherited form of hyperinsulinism, with episodes of low blood sugar that are often missed in infancy.
Understanding Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
It causes episodes of low blood sugar (hypoglycemia) that are usually mild and may go unnoticed in infancy. It is milder than forms caused by recessive potassium channel changes. It responds to the medicine diazoxide. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar episodes
- Drowsiness
- Agitation
- Paleness and fast heartbeat
- Sweating
- Larger-than-average size at birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in KCNJ11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Congenital Hyperinsulinism International
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the KCNJ11 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: autosomal dominant hyperinsulinemic hypoglycemia due to kir6.2 deficiency; dominant katp hyperinsulinism due to kir6.2 deficiency
Patient organizations
- Congenital Hyperinsulinism InternationalAutosomal dominant hyperinsulinism due to Kir6.2 deficiency · United States
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